Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q
about
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterDistinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genomeMutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiencyA missense mutation in the OCTN2 gene associated with residual carnitine transport activityGenetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiencyDifferent involvement of promoter methylation in the expression of organic cation/carnitine transporter 2 (OCTN2) in cancer cell linesCarnitine biosynthesis in mammals.Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementationSLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE).Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events.Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
P2860
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P2860
Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Evidence for linkage of human ...... el gene locus on chromosome 5q
@ast
Evidence for linkage of human ...... el gene locus on chromosome 5q
@en
Evidence for linkage of human ...... el gene locus on chromosome 5q
@nl
type
label
Evidence for linkage of human ...... el gene locus on chromosome 5q
@ast
Evidence for linkage of human ...... el gene locus on chromosome 5q
@en
Evidence for linkage of human ...... el gene locus on chromosome 5q
@nl
prefLabel
Evidence for linkage of human ...... el gene locus on chromosome 5q
@ast
Evidence for linkage of human ...... el gene locus on chromosome 5q
@en
Evidence for linkage of human ...... el gene locus on chromosome 5q
@nl
P2093
P2860
P356
P1476
Evidence for linkage of human ...... el gene locus on chromosome 5q
@en
P2093
Takahashi T
P2860
P304
P356
10.1086/301911
P407
P577
1998-07-01T00:00:00Z